Moirangthem, AmitaMandal, KausikGhosh, ApurbaPhadke, Shubha R2020-04-232020-04-232019-07Moirangthem Amita, Mandal Kausik, Ghosh Apurba, Phadke Shubha R. Vici Syndrome with a Novel Mutation in EPG5. Indian Pediatrics. 2019 Jul; 56(7): 603-6060974-75590019-6061http://imsear.searo.who.int/handle/123456789/199357Background: Vici syndrome is a neurodevelopmental disorder of the autophagy pathway.Almost all cases reported have the cardinal features of agenesis of corpus callosum,cataract, cardiomyopathy, immunodeficiency and hypopigmentation. Casecharacteristics: 8-month-old boy with developmental delay, myoclonic jerks, repeatedrespiratory infections, coarse facial features, cataract and hypopigmented hair.Echocardiography revealed dilated cardiomyopathy and magnetic resonance imaging ofbrain suggested agenesis of corpus callosum. Exome sequencing detected a novelhomozygous nonsense mutation in the EPG5 gene. Outcome: Establishing a definitediagnosis helped in proper prognostication, providing genetic counseling and prenataldiagnosis to the family. Message: Though uncommon, presence of the characteristicfeatures makes Vici syndrome a clinically recognizable cause of developmental delay.Journal ArticleIndiaDepartment of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences (SGPGIMS), Lucknow, UttarPradesh, IndiaInstitute of Child Health, Kolkata, West Bengal, India